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  3. LAMA5
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Fetal anomalies

Gene: LAMA5

Green List (high evidence)
LAMA5 (laminin subunit alpha 5)
EnsemblGeneIds (GRCh38): ENSG00000130702
EnsemblGeneIds (GRCh37): ENSG00000130702
OMIM: 601033, Gene2Phenotype
LAMA5 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Two early fetal losses in the same family with compound heterozygous stop-gain and +5 splice variants (the latter associated with altered splicing) - both fetuses had abnormalities in multiple systems, including absent or dysplastic kidneys, spina bifida, syndactyly, ventricular septal defect, omphalocele (PMID: 35584218). Homozygous missense variant p.(Arg286Leu) identified in a patient with kidney dysfunction, short stature, craniofacial dysmorphism, syndactyly and other abnormalities; prenatally polyhydramnios, raised nuchal translucency and omphalocele (PMID: 32439764). The p.(Arg286Leu) variant impaired LAMA5 polymerization and homozygous knockin mice died perinatally and showed syndactyly, abnormal kidney development and other abnormalities. Further case reports of biallelic variants in congenital nephrotic syndrome presenting in infancy or childhood (PMID: 37985485, PMID: 36714636, PMID: 35419533). Lama5 null mice die at late fetal stages with multiple development defects including failure of anterior neural tube closure and syndactyly (PMID: 9852162). Multiple cases and consistent mouse models, sufficient for green rating.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 26, MIM#620049

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 26, OMIM:620049
OMIM
601033
Clinvar variants
Variants in LAMA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: LAMA5. Tag Q1_25_ promote_green was removed from gene: LAMA5.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to LAMA5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: LAMA5. Tag Q1_25_ promote_green tag was added to gene: LAMA5.

20 Feb 2025, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: LAMA5 was added gene: LAMA5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA5 were set to 32439764; 35584218; 35419533; 36714636; 37985485 Phenotypes for gene: LAMA5 were set to Nephrotic syndrome, type 26, OMIM:620049